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Article

Newborn screening for fatty acid oxidation disorders: epidemiological and genetic findings in Southeastern China.

BMC pediatrics - 24 Oct 2025

Zhang Suping, Li Xintong, Ye Sheng, Song Weiting, Chen Hong

Abstract excerpt

Fatty acid oxidation disorders (FAODs) are a group of rare diseases caused by deficiencies in the function of enzymes or proteins involved in the mitochondrial oxidation of fatty acids. This study aimed to analyze the incidence, disease spectrum, gene profile, and clinical phenotypes of FAODs in the southeastern coastal region of China. Between January 2016 and June 2024, acylcarnitine, genetic mutation, and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41136988
DOI: 10.1186/s12887-025-06250-y
PMCID: PMC12553155

Genes

MADD
C6
SLC22A5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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